Human cDNA encoding OPN1LW was inserted at the endogenous mouse Opn1mw locus, replacing a 3' portion of exon 2 and all of exons 3, 4, and 5. The allele putatively produces a hybrid protein consisting of 92 N-terminal residues encoded by mouse exon 1 and the 5' portion of exon 2, and 266 C-terminal residues encoded by the human cDNA. Nearly the entire chromophore binding pocket, as well as the residues that account for the difference in absorbance spectra between human and mouse, is derived from the human sequence. Immunostaining indicated expression of the hybrid protein and electroretinogram indicated that the spectral sensitivity of cones containing the targeted allele was similar to that of human red cones. (J:85849)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129
Targeted
Insertion, Intragenic deletion
--
1
7
18

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

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PMID
Journal
Year
IF
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